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Integrative genetic analysis: cornerstone of precision psychiatry. Mol Psychiatry. 2024 Aug 30.
Vorstman J, Sebat J, Bourque VR, Jacquemont S. PMID: 39215185.
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PubMed Mentions: Fields:
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Neurocognitive profiles of 22q11.2 and 16p11.2 deletions and duplications. Mol Psychiatry. 2024 Jul 24.
Gur RC, Bearden CE, Jacquemont S, Swillen A, van Amelsvoort T, van den Bree M, Vorstman J, Sebat J, Ruparel K, Gallagher RS, McClellan E, White L, Crowley TB, Giunta V, Kushan L, O'Hora K, Verbesselt J, Vandensande A, Vingerhoets C, van Haelst M, Hall J, Harwood J, Chawner SJRA, Patel N, Palad K, Hong O, Guevara J, Martin CO, Jizi K, Bélanger AM, Scherer SW, Bassett AS, McDonald-McGinn DM, Gur RE. PMID: 39048645.
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PubMed Mentions:
1 Fields:
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Effects of genetically predicted posttraumatic stress disorder on autoimmune phenotypes. Transl Psychiatry. 2024 Apr 01; 14(1):172.
Maihofer AX, Ratanatharathorn A, Hemmings SMJ, Costenbader KH, Michopoulos V, Polimanti R, Rothbaum AO, Seedat S, Mikita EA, CHARGE Inflammation Working Group, Psychiatric Genomics Consortium PTSD Working Group, Smith AK, Salem RM, Shaffer RA, Wu T, Sebat J, Ressler KJ, Stein MB, Koenen KC, Wolf EJ, Sumner JA, Nievergelt CM. PMID: 38561342; PMCID: PMC10984931.
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PubMed Mentions: Fields:
Translation:
Humans
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A revamped rat reference genome improves the discovery of genetic diversity in laboratory rats. Cell Genom. 2024 Apr 10; 4(4):100527.
de Jong TV, Pan Y, Rastas P, Munro D, Tutaj M, Akil H, Benner C, Chen D, Chitre AS, Chow W, Colonna V, Dalgard CL, Demos WM, Doris PA, Garrison E, Geurts AM, Gunturkun HM, Guryev V, Hourlier T, Howe K, Huang J, Kalbfleisch T, Kim P, Li L, Mahaffey S, Martin FJ, Mohammadi P, Ozel AB, Polesskaya O, Pravenec M, Prins P, Sebat J, Smith JR, Solberg Woods LC, Tabakoff B, Tracey A, Uliano-Silva M, Villani F, Wang H, Sharp BM, Telese F, Jiang Z, Saba L, Wang X, Murphy TD, Palmer AA, Kwitek AE, Dwinell MR, Williams RW, Li JZ, Chen H. PMID: 38537634; PMCID: PMC11019364.
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PubMed Mentions:
6 Fields:
Translation:
Animals
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Neurocognitive Profiles of 22q11.2 and 16p11.2 Deletions and Duplications. Res Sq. 2023 Dec 29.
Gur R, Bearden C, Jacquemont S, Jizi K, Amelsvoort van T, van den Bree M, Vorstman J, Sebat J, Ruparel K, Gallagher R, Swillen A, McClellan E, White L, Crowley T, Giunta V, Kushan L, O'Hora K, Verbesselt J, Vandensande A, Vingerhoets C, van Haelst M, Hall J, Harwood J, Chawner S, Patel N, Palad K, Hong O, Guevara J, Martin CO, Bélanger AM, Scherer S, Bassett A, McDonald-McGinn D, Gur R. PMID: 38234766; PMCID: PMC10793509.
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PubMed Mentions:
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A revamped rat reference genome improves the discovery of genetic diversity in laboratory rats. bioRxiv. 2023 Sep 28.
de Jong TV, Pan Y, Rastas P, Munro D, Tutaj M, Akil H, Benner C, Chen D, Chitre AS, Chow W, Colonna V, Dalgard CL, Demos WM, Doris PA, Garrison E, Geurts AM, Gunturkun HM, Guryev V, Hourlier T, Howe K, Huang J, Kalbfleisch T, Kim P, Li L, Mahaffey S, Martin FJ, Mohammadi P, Ozel AB, Polesskaya O, Pravenec M, Prins P, Sebat J, Smith JR, Solberg Woods LC, Tabakoff B, Tracey A, Uliano-Silva M, Villani F, Wang H, Sharp BM, Telese F, Jiang Z, Saba L, Wang X, Murphy TD, Palmer AA, Kwitek AE, Dwinell MR, Williams RW, Li JZ, Chen H. PMID: 37214860; PMCID: PMC10197727.
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Schizophrenia-associated somatic copy-number variants from 12,834 cases reveal recurrent NRXN1 and ABCB11 disruptions. Cell Genom. 2023 Aug 09; 3(8):100356.
Maury EA, Sherman MA, Genovese G, Gilgenast TG, Kamath T, Burris SJ, Rajarajan P, Flaherty E, Akbarian S, Chess A, McCarroll SA, Loh PR, Phillips-Cremins JE, Brennand KJ, Macosko EZ, Walters JTR, O'Donovan M, Sullivan P, Psychiatric Genomic Consortium Schizophrenia and CNV workgroup, Brain Somatic Mosaicism Network, Sebat J, Lee EA, Walsh CA. PMID: 37601975; PMCID: PMC10435376.
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PubMed Mentions:
9 Fields:
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Author Correction: Protein interaction network of alternatively spliced isoforms from brain links genetic risk factors for autism. Nat Commun. 2023 Feb 02; 14(1):569.
Corominas R, Yang X, Lin GN, Kang S, Shen Y, Ghamsari L, Broly M, Rodriguez M, Tam S, Wanamaker SA, Fan C, Yi S, Tasan M, Lemmens I, Kuang X, Zhao N, Malhotra D, Michaelson JJ, Vacic V, Calderwood MA, Roth FP, Tavernier J, Horvath S, Salehi-Ashtiani K, Korkin D, Sebat J, Hill DE, Hao T, Vidal M, Iakoucheva LM. PMID: 36732511; PMCID: PMC9895433.
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PubMed Mentions: Fields:
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Control-independent mosaic single nucleotide variant detection with DeepMosaic. Nat Biotechnol. 2023 06; 41(6):870-877.
Yang X, Xu X, Breuss MW, Antaki D, Ball LL, Chung C, Shen J, Li C, George RD, Wang Y, Bae T, Cheng Y, Abyzov A, Wei L, Alexandrov LB, Sebat JL, NIMH Brain Somatic Mosaicism Network, Gleeson JG. PMID: 36593400; PMCID: PMC10314968.
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PubMed Mentions:
12 Fields:
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Genomic architecture of autism from comprehensive whole-genome sequence annotation. Cell. 2022 11 10; 185(23):4409-4427.e18.
Trost B, Thiruvahindrapuram B, Chan AJS, Engchuan W, Higginbotham EJ, Howe JL, Loureiro LO, Reuter MS, Roshandel D, Whitney J, Zarrei M, Bookman M, Somerville C, Shaath R, Abdi M, Aliyev E, Patel RV, Nalpathamkalam T, Pellecchia G, Hamdan O, Kaur G, Wang Z, MacDonald JR, Wei J, Sung WWL, Lamoureux S, Hoang N, Selvanayagam T, Deflaux N, Geng M, Ghaffari S, Bates J, Young EJ, Ding Q, Shum C, D'Abate L, Bradley CA, Rutherford A, Aguda V, Apresto B, Chen N, Desai S, Du X, Fong MLY, Pullenayegum S, Samler K, Wang T, Ho K, Paton T, Pereira SL, Herbrick JA, Wintle RF, Fuerth J, Noppornpitak J, Ward H, Magee P, Al Baz A, Kajendirarajah U, Kapadia S, Vlasblom J, Valluri M, Green J, Seifer V, Quirbach M, Rennie O, Kelley E, Masjedi N, Lord C, Szego MJ, Zawati MH, Lang M, Strug LJ, Marshall CR, Costain G, Calli K, Iaboni A, Yusuf A, Ambrozewicz P, Gallagher L, Amaral DG, Brian J, Elsabbagh M, Georgiades S, Messinger DS, Ozonoff S, Sebat J, Sjaarda C, Smith IM, Szatmari P, Zwaigenbaum L, Kushki A, Frazier TW, Vorstman JAS, Fakhro KA, Fernandez BA, Lewis MES, Weksberg R, Fiume M, Yuen RKC, Anagnostou E, Sondheimer N, Glazer D, Hartley DM, Scherer SW. PMID: 36368308; PMCID: PMC10726699.
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PubMed Mentions:
65 Fields:
Translation:
Humans
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Statistical and functional convergence of common and rare genetic influences on autism at chromosome 16p. Nat Genet. 2022 11; 54(11):1630-1639.
Weiner DJ, Ling E, Erdin S, Tai DJC, Yadav R, Grove J, Fu JM, Nadig A, Carey CE, Baya N, Bybjerg-Grauholm J, iPSYCH Consortium, ASD Working Group of the Psychiatric Genomics Consortium, ADHD Working Group of the Psychiatric Genomics Consortium, Berretta S, Macosko EZ, Sebat J, O'Connor LJ, Hougaard DM, Børglum AD, Talkowski ME, McCarroll SA, Robinson EB. PMID: 36280734; PMCID: PMC9649437.
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PubMed Mentions:
13 Fields:
Translation:
HumansCells
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Rare copy number variation in posttraumatic stress disorder. Mol Psychiatry. 2022 12; 27(12):5062-5069.
Maihofer AX, Engchuan W, Huguet G, Klein M, MacDonald JR, Shanta O, Thiruvahindrapuram B, Jean-Louis M, Saci Z, Jacquemont S, Scherer SW, Ketema E, Aiello AE, Amstadter AB, Avdibegovic E, Babic D, Baker DG, Bisson JI, Boks MP, Bolger EA, Bryant RA, Bustamante AC, Caldas-de-Almeida JM, Cardoso G, Deckert J, Delahanty DL, Domschke K, Dunlop BW, Dzubur-Kulenovic A, Evans A, Feeny NC, Franz CE, Gautam A, Geuze E, Goci A, Hammamieh R, Jakovljevic M, Jett M, Jones I, Kaufman ML, Kessler RC, King AP, Kremen WS, Lawford BR, Lebois LAM, Lewis C, Liberzon I, Linnstaedt SD, Lugonja B, Luykx JJ, Lyons MJ, Mavissakalian MR, McLaughlin KA, McLean SA, Mehta D, Mellor R, Morris CP, Muhie S, Orcutt HK, Peverill M, Ratanatharathorn A, Risbrough VB, Rizzo A, Roberts AL, Rothbaum AO, Rothbaum BO, Roy-Byrne P, Ruggiero KJ, Rutten BPF, Schijven D, Seng JS, Sheerin CM, Sorenson MA, Teicher MH, Uddin M, Ursano RJ, Vinkers CH, Voisey J, Weber H, Winternitz S, Xavier M, Yang R, McD Young R, Zoellner LA, Psychiatric Genomics Consortium PTSD Working Group, Psychiatric Genomics Consortium CNV Working Group, Salem RM, Shaffer RA, Wu T, Ressler KJ, Stein MB, Koenen KC, Sebat J, Nievergelt CM. PMID: 36131047; PMCID: PMC9763110.
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PubMed Mentions:
1 Fields:
Translation:
Humans
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Publisher Correction: A phenotypic spectrum of autism is attributable to the combined effects of rare variants, polygenic risk and sex. Nat Genet. 2022 Aug; 54(8):1259.
Antaki D, Guevara J, Maihofer AX, Klein M, Gujral M, Grove J, Carey CE, Hong O, Arranz MJ, Hervas A, Corsello C, Vaux KK, Muotri AR, Iakoucheva LM, Courchesne E, Pierce K, Gleeson JG, Robinson EB, Nievergelt CM, Sebat J. PMID: 35768728.
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PubMed Mentions:
3 Fields:
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Exome sequencing analysis of Japanese autism spectrum disorder case-control sample supports an increased burden of synaptic function-related genes. Transl Psychiatry. 2022 07 11; 12(1):265.
Kimura H, Nakatochi M, Aleksic B, Guevara J, Toyama M, Hayashi Y, Kato H, Kushima I, Morikawa M, Ishizuka K, Okada T, Tsurusaki Y, Fujita A, Miyake N, Ogi T, Takata A, Matsumoto N, Buxbaum J, Ozaki N, Sebat J. PMID: 35811316; PMCID: PMC9271461.
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PubMed Mentions:
4 Fields:
Translation:
Humans
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A phenotypic spectrum of autism is attributable to the combined effects of rare variants, polygenic risk and sex. Nat Genet. 2022 09; 54(9):1284-1292.
Antaki D, Guevara J, Maihofer AX, Klein M, Gujral M, Grove J, Carey CE, Hong O, Arranz MJ, Hervas A, Corsello C, Vaux KK, Muotri AR, Iakoucheva LM, Courchesne E, Pierce K, Gleeson JG, Robinson EB, Nievergelt CM, Sebat J. PMID: 35654974; PMCID: PMC9474668.
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PubMed Mentions:
71 Fields:
Translation:
Humans
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SNPs, short tandem repeats, and structural variants are responsible for differential gene expression across C57BL/6 and C57BL/10 substrains. Cell Genom. 2022 Mar 09; 2(3).
Mortazavi M, Ren Y, Saini S, Antaki D, St Pierre CL, Williams A, Sohni A, Wilkinson MF, Gymrek M, Sebat J, Palmer AA. PMID: 35720252; PMCID: PMC9205302.
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PubMed Mentions:
11 Fields:
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Genes To Mental Health (G2MH): A Framework to Map the Combined Effects of Rare and Common Variants on Dimensions of Cognition and Psychopathology. Am J Psychiatry. 2022 03; 179(3):189-203.
Jacquemont S, Huguet G, Klein M, Chawner SJRA, Donald KA, van den Bree MBM, Sebat J, Ledbetter DH, Constantino JN, Earl RK, McDonald-McGinn DM, van Amelsvoort T, Swillen A, O'Donnell-Luria AH, Glahn DC, Almasy L, Eichler EE, Scherer SW, Robinson E, Bassett AS, Martin CL, Finucane B, Vorstman JAS, Bearden CE, Gur RE, Genes to Mental Health Network. PMID: 35236119; PMCID: PMC9345000.
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PubMed Mentions:
22 Fields:
Translation:
Humans
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Correction: Cortical organoids model early brain development disrupted by 16p11.2 copy number variants in autism. Mol Psychiatry. 2021 Dec; 26(12):7581.
Urresti J, Zhang P, Moran-Losada P, Yu NK, Negraes PD, Trujillo CA, Antaki D, Amar M, Chau K, Pramod AB, Diedrich J, Tejwani L, Romero S, Sebat J, Yates Iii JR, Muotri AR, Iakoucheva LM. PMID: 34548630; PMCID: PMC9119232.
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PubMed Mentions:
3 Fields:
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Customized de novo mutation detection for any variant calling pipeline: SynthDNM. Bioinformatics. 2021 Oct 25; 37(20):3640-3641.
Lian A, Guevara J, Xia K, Sebat J. PMID: 33821956; PMCID: PMC8545295.
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PubMed Mentions:
3 Fields:
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Enhancing Discovery of Genetic Variants for Posttraumatic Stress Disorder Through Integration of Quantitative Phenotypes and Trauma Exposure Information. Biol Psychiatry. 2022 04 01; 91(7):626-636.
Maihofer AX, Choi KW, Coleman JRI, Daskalakis NP, Denckla CA, Ketema E, Morey RA, Polimanti R, Ratanatharathorn A, Torres K, Wingo AP, Zai CC, Aiello AE, Almli LM, Amstadter AB, Andersen SB, Andreassen OA, Arbisi PA, Ashley-Koch AE, Austin SB, Avdibegovic E, Borglum AD, Babic D, Bækvad-Hansen M, Baker DG, Beckham JC, Bierut LJ, Bisson JI, Boks MP, Bolger EA, Bradley B, Brashear M, Breen G, Bryant RA, Bustamante AC, Bybjerg-Grauholm J, Calabrese JR, Caldas-de-Almeida JM, Chen CY, Dale AM, Dalvie S, Deckert J, Delahanty DL, Dennis MF, Disner SG, Domschke K, Duncan LE, Džubur Kulenovic A, Erbes CR, Evans A, Farrer LA, Feeny NC, Flory JD, Forbes D, Franz CE, Galea S, Garrett ME, Gautam A, Gelaye B, Gelernter J, Geuze E, Gillespie CF, Goçi A, Gordon SD, Guffanti G, Hammamieh R, Hauser MA, Heath AC, Hemmings SMJ, Hougaard DM, Jakovljevic M, Jett M, Johnson EO, Jones I, Jovanovic T, Qin XJ, Karstoft KI, Kaufman ML, Kessler RC, Khan A, Kimbrel NA, King AP, Koen N, Kranzler HR, Kremen WS, Lawford BR, Lebois LAM, Lewis C, Liberzon I, Linnstaedt SD, Logue MW, Lori A, Lugonja B, Luykx JJ, Lyons MJ, Maples-Keller JL, Marmar C, Martin NG, Maurer D, Mavissakalian MR, McFarlane A, McGlinchey RE, McLaughlin KA, McLean SA, Mehta D, Mellor R, Michopoulos V, Milberg W, Miller MW, Morris CP, Mors O, Mortensen PB, Nelson EC, Nordentoft M, Norman SB, O'Donnell M, Orcutt HK, Panizzon MS, Peters ES, Peterson AL, Peverill M, Pietrzak RH, Polusny MA, Rice JP, Risbrough VB, Roberts AL, Rothbaum AO, Rothbaum BO, Roy-Byrne P, Ruggiero KJ, Rung A, Rutten BPF, Saccone NL, Sanchez SE, Schijven D, Seedat S, Seligowski AV, Seng JS, Sheerin CM, Silove D, Smith AK, Smoller JW, Sponheim SR, Stein DJ, Stevens JS, Teicher MH, Thompson WK, Trapido E, Uddin M, Ursano RJ, van den Heuvel LL, Van Hooff M, Vermetten E, Vinkers CH, Voisey J, Wang Y, Wang Z, Werge T, Williams MA, Williamson DE, Winternitz S, Wolf C, Wolf EJ, Yehuda R, Young KA, Young RM, Zhao H, Zoellner LA, Haas M, Lasseter H, Provost AC, Salem RM, Sebat J, Shaffer RA, Wu T, Ripke S, Daly MJ, Ressler KJ, Koenen KC, Stein MB, Nievergelt CM. PMID: 34865855; PMCID: PMC8917986.
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PubMed Mentions:
15 Fields:
Translation:
Humans
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Cortical organoids model early brain development disrupted by 16p11.2 copy number variants in autism. Mol Psychiatry. 2021 12; 26(12):7560-7580.
Urresti J, Zhang P, Moran-Losada P, Yu NK, Negraes PD, Trujillo CA, Antaki D, Amar M, Chau K, Pramod AB, Diedrich J, Tejwani L, Romero S, Sebat J, Yates Iii JR, Muotri AR, Iakoucheva LM. PMID: 34433918; PMCID: PMC8873019.
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PubMed Mentions:
50 Fields:
Translation:
HumansCells
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Developmental and temporal characteristics of clonal sperm mosaicism. Cell. 2021 09 02; 184(18):4772-4783.e15.
Yang X, Breuss MW, Xu X, Antaki D, James KN, Stanley V, Ball LL, George RD, Wirth SA, Cao B, Nguyen A, McEvoy-Venneri J, Chai G, Nahas S, Van Der Kraan L, Ding Y, Sebat J, Gleeson JG. PMID: 34388390; PMCID: PMC8496133.
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PubMed Mentions:
26 Fields:
Translation:
HumansCells
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Autism-linked Cullin3 germline haploinsufficiency impacts cytoskeletal dynamics and cortical neurogenesis through RhoA signaling. Mol Psychiatry. 2021 07; 26(7):3586-3613.
Amar M, Pramod AB, Yu NK, Herrera VM, Qiu LR, Moran-Losada P, Zhang P, Trujillo CA, Ellegood J, Urresti J, Chau K, Diedrich J, Chen J, Gutierrez J, Sebat J, Ramanathan D, Lerch JP, Yates JR, Muotri AR, Iakoucheva LM. PMID: 33727673; PMCID: PMC8443683.
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PubMed Mentions:
22 Fields:
Translation:
AnimalsCells
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Inferring the molecular and phenotypic impact of amino acid variants with MutPred2. Nat Commun. 2020 11 20; 11(1):5918.
Pejaver V, Urresti J, Lugo-Martinez J, Pagel KA, Lin GN, Nam HJ, Mort M, Cooper DN, Sebat J, Iakoucheva LM, Mooney SD, Radivojac P. PMID: 33219223; PMCID: PMC7680112.
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PubMed Mentions:
306 Fields:
Translation:
Humans
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Identifying schizophrenia patients who carry pathogenic genetic copy number variants using standard clinical assessment: retrospective cohort study. Br J Psychiatry. 2020 05; 216(5):275-279.
Foley C, Heron EA, Harold D, Walters J, Owen M, O'Donovan M, Sebat J, Kelleher E, Mooney C, Durand A, Pinto C, Cormican P, Morris D, Donohoe G, Gill M, Gallagher L, Corvin A. PMID: 31964429.
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PubMed Mentions:
4 Fields:
Translation:
Humans
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The effects of common structural variants on 3D chromatin structure. BMC Genomics. 2020 Jan 30; 21(1):95.
Shanta O, Noor A, Human Genome Structural Variation Consortium (HGSVC), Sebat J. PMID: 32000688; PMCID: PMC6990566.
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PubMed Mentions:
15 Fields:
Translation:
HumansCells
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Autism risk in offspring can be assessed through quantification of male sperm mosaicism. Nat Med. 2020 01; 26(1):143-150.
Breuss MW, Antaki D, George RD, Kleiber M, James KN, Ball LL, Hong O, Mitra I, Yang X, Wirth SA, Gu J, Garcia CAB, Gujral M, Brandler WM, Musaev D, Nguyen A, McEvoy-Venneri J, Knox R, Sticca E, Botello MCC, Uribe Fenner J, Pérez MC, Arranz M, Moffitt AB, Wang Z, Hervás A, Devinsky O, Gymrek M, Sebat J, Gleeson JG. PMID: 31873310; PMCID: PMC7032648.
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PubMed Mentions:
49 Fields:
Translation:
HumansCells
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Common DNA sequence variation influences 3-dimensional conformation of the human genome. Genome Biol. 2019 11 28; 20(1):255.
Gorkin DU, Qiu Y, Hu M, Fletez-Brant K, Liu T, Schmitt AD, Noor A, Chiou J, Gaulton KJ, Sebat J, Li Y, Hansen KD, Ren B. PMID: 31779666; PMCID: PMC6883528.
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PubMed Mentions:
40 Fields:
Translation:
HumansCells
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Ranking of non-coding pathogenic variants and putative essential regions of the human genome. Nat Commun. 2019 11 20; 10(1):5241.
Wells A, Heckerman D, Torkamani A, Yin L, Sebat J, Ren B, Telenti A, di Iulio J. PMID: 31748530; PMCID: PMC6868241.
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PubMed Mentions:
44 Fields:
Translation:
HumansCells
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Oligogenic Effects of 16p11.2 Copy-Number Variation on Craniofacial Development. Cell Rep. 2019 09 24; 28(13):3320-3328.e4.
Qiu Y, Arbogast T, Lorenzo SM, Li H, Tang SC, Richardson E, Hong O, Cho S, Shanta O, Pang T, Corsello C, Deutsch CK, Chevalier C, Davis EE, Iakoucheva LM, Herault Y, Katsanis N, Messer K, Sebat J. PMID: 31553903; PMCID: PMC6988705.
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PubMed Mentions:
24 Fields:
Translation:
HumansCells
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A framework for the investigation of rare genetic disorders in neuropsychiatry. Nat Med. 2019 10; 25(10):1477-1487.
Sanders SJ, Sahin M, Hostyk J, Thurm A, Jacquemont S, Avillach P, Douard E, Martin CL, Modi ME, Moreno-De-Luca A, Raznahan A, Anticevic A, Dolmetsch R, Feng G, Geschwind DH, Glahn DC, Goldstein DB, Ledbetter DH, Mulle JG, Pasca SP, Samaco R, Sebat J, Pariser A, Lehner T, Gur RE, Bearden CE. PMID: 31548702; PMCID: PMC8656349.
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PubMed Mentions:
50 Fields:
Translation:
Humans
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View in:
PubMed Mentions:
120 Fields:
Translation:
HumansAnimalsCells
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Pathogenicity and functional impact of non-frameshifting insertion/deletion variation in the human genome. PLoS Comput Biol. 2019 06; 15(6):e1007112.
Pagel KA, Antaki D, Lian A, Mort M, Cooper DN, Sebat J, Iakoucheva LM, Mooney SD, Radivojac P. PMID: 31199787; PMCID: PMC6594643.
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PubMed Mentions:
28 Fields:
Translation:
Humans
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Targeted Treatment of Individuals With Psychosis Carrying a Copy Number Variant Containing a Genomic Triplication of the Glycine Decarboxylase Gene. Biol Psychiatry. 2019 10 01; 86(7):523-535.
Bodkin JA, Coleman MJ, Godfrey LJ, Carvalho CMB, Morgan CJ, Suckow RF, Anderson T, Öngür D, Kaufman MJ, Lewandowski KE, Siegel AJ, Waldstreicher E, Grochowski CM, Javitt DC, Rujescu D, Hebbring S, Weinshilboum R, Rodriguez SB, Kirchhoff C, Visscher T, Vuckovic A, Fialkowski A, McCarthy S, Malhotra D, Sebat J, Goff DC, Hudson JI, Lupski JR, Coyle JT, Rudolph U, Levy DL. PMID: 31279534; PMCID: PMC6745274.
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PubMed Mentions:
23 Fields:
Translation:
HumansCTClinical Trials
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Multi-platform discovery of haplotype-resolved structural variation in human genomes. Nat Commun. 2019 04 16; 10(1):1784.
Chaisson MJP, Sanders AD, Zhao X, Malhotra A, Porubsky D, Rausch T, Gardner EJ, Rodriguez OL, Guo L, Collins RL, Fan X, Wen J, Handsaker RE, Fairley S, Kronenberg ZN, Kong X, Hormozdiari F, Lee D, Wenger AM, Hastie AR, Antaki D, Anantharaman T, Audano PA, Brand H, Cantsilieris S, Cao H, Cerveira E, Chen C, Chen X, Chin CS, Chong Z, Chuang NT, Lambert CC, Church DM, Clarke L, Farrell A, Flores J, Galeev T, Gorkin DU, Gujral M, Guryev V, Heaton WH, Korlach J, Kumar S, Kwon JY, Lam ET, Lee JE, Lee J, Lee WP, Lee SP, Li S, Marks P, Viaud-Martinez K, Meiers S, Munson KM, Navarro FCP, Nelson BJ, Nodzak C, Noor A, Kyriazopoulou-Panagiotopoulou S, Pang AWC, Qiu Y, Rosanio G, Ryan M, Stütz A, Spierings DCJ, Ward A, Welch AE, Xiao M, Xu W, Zhang C, Zhu Q, Zheng-Bradley X, Lowy E, Yakneen S, McCarroll S, Jun G, Ding L, Koh CL, Ren B, Flicek P, Chen K, Gerstein MB, Kwok PY, Lansdorp PM, Marth GT, Sebat J, Shi X, Bashir A, Ye K, Devine SE, Talkowski ME, Mills RE, Marschall T, Korbel JO, Eichler EE, Lee C. PMID: 30992455; PMCID: PMC6467913.
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PubMed Mentions:
427 Fields:
Translation:
Humans
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Joint Contributions of Rare Copy Number Variants and Common SNPs to Risk for Schizophrenia. Am J Psychiatry. 2019 01 01; 176(1):29-35.
Bergen SE, Ploner A, Howrigan D, CNV Analysis Group and the Schizophrenia Working Group of the Psychiatric Genomics Consortium, O'Donovan MC, Smoller JW, Sullivan PF, Sebat J, Neale B, Kendler KS. PMID: 30392412; PMCID: PMC6408268.
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PubMed Mentions:
66 Fields:
Translation:
Humans
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SV2: accurate structural variation genotyping and de novo mutation detection from whole genomes. Bioinformatics. 2018 05 15; 34(10):1774-1777.
Antaki D, Brandler WM, Sebat J. PMID: 29300834; PMCID: PMC5946924.
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PubMed Mentions:
20 Fields:
Translation:
Humans
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Marker chromosome genomic structure and temporal origin implicate a chromoanasynthesis event in a family with pleiotropic psychiatric phenotypes. Hum Mutat. 2018 07; 39(7):939-946.
Grochowski CM, Gu S, Yuan B, Tcw J, Brennand KJ, Sebat J, Malhotra D, McCarthy S, Rudolph U, Lindstrand A, Chong Z, Levy DL, Lupski JR, Carvalho CMB. PMID: 29696747; PMCID: PMC5995661.
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PubMed Mentions:
16 Fields:
Translation:
HumansCells
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Paternally inherited cis-regulatory structural variants are associated with autism. Science. 2018 04 20; 360(6386):327-331.
Brandler WM, Antaki D, Gujral M, Kleiber ML, Whitney J, Maile MS, Hong O, Chapman TR, Tan S, Tandon P, Pang T, Tang SC, Vaux KK, Yang Y, Harrington E, Juul S, Turner DJ, Thiruvahindrapuram B, Kaur G, Wang Z, Kingsmore SF, Gleeson JG, Bisson D, Kakaradov B, Telenti A, Venter JC, Corominas R, Toma C, Cormand B, Rueda I, Guijarro S, Messer KS, Nievergelt CM, Arranz MJ, Courchesne E, Pierce K, Muotri AR, Iakoucheva LM, Hervas A, Scherer SW, Corsello C, Sebat J. PMID: 29674594; PMCID: PMC6449150.
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102 Fields:
Translation:
HumansCells
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Modeling the Interplay Between Neurons and Astrocytes in Autism Using Human Induced Pluripotent Stem Cells. Biol Psychiatry. 2018 04 01; 83(7):569-578.
Russo FB, Freitas BC, Pignatari GC, Fernandes IR, Sebat J, Muotri AR, Beltrão-Braga PCB. PMID: 29129319.
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PubMed Mentions:
80 Fields:
Translation:
HumansCells
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FOXP1-related intellectual disability syndrome: a recognisable entity. J Med Genet. 2017 09; 54(9):613-623.
Meerschaut I, Rochefort D, Revençu N, Pètre J, Corsello C, Rouleau GA, Hamdan FF, Michaud JL, Morton J, Radley J, Ragge N, García-Miñaúr S, Lapunzina P, Bralo MP, Mori MÁ, Moortgat S, Benoit V, Mary S, Bockaert N, Oostra A, Vanakker O, Velinov M, de Ravel TJ, Mekahli D, Sebat J, Vaux KK, DiDonato N, Hanson-Kahn AK, Hudgins L, Dallapiccola B, Novelli A, Tarani L, Andrieux J, Parker MJ, Neas K, Ceulemans B, Schoonjans AS, Prchalova D, Havlovicova M, Hancarova M, Budisteanu M, Dheedene A, Menten B, Dion PA, Lederer D, Callewaert B. PMID: 28735298.
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PubMed Mentions:
35 Fields:
Translation:
HumansCells
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When loss-of-function is loss of function: assessing mutational signatures and impact of loss-of-function genetic variants. Bioinformatics. 2017 Jul 15; 33(14):i389-i398.
Pagel KA, Pejaver V, Lin GN, Nam HJ, Mort M, Cooper DN, Sebat J, Iakoucheva LM, Mooney SD, Radivojac P. PMID: 28882004; PMCID: PMC5870554.
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PubMed Mentions:
39 Fields:
Translation:
HumansCells
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Divergent Levels of Marker Chromosomes in an hiPSC-Based Model of Psychosis. Stem Cell Reports. 2017 03 14; 8(3):519-528.
Tcw J, Carvalho CMB, Yuan B, Gu S, Altheimer AN, McCarthy S, Malhotra D, Sebat J, Siegel AJ, Rudolph U, Lupski JR, Levy DL, Brennand KJ. PMID: 28216146; PMCID: PMC5355568.
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PubMed Mentions:
6 Fields:
Translation:
HumansCells
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Contribution of copy number variants to schizophrenia from a genome-wide study of 41,321 subjects. Nat Genet. 2017 01; 49(1):27-35.
Marshall CR, Howrigan DP, Merico D, Thiruvahindrapuram B, Wu W, Greer DS, Antaki D, Shetty A, Holmans PA, Pinto D, Gujral M, Brandler WM, Malhotra D, Wang Z, Fajarado KVF, Maile MS, Ripke S, Agartz I, Albus M, Alexander M, Amin F, Atkins J, Bacanu SA, Belliveau RA, Bergen SE, Bertalan M, Bevilacqua E, Bigdeli TB, Black DW, Bruggeman R, Buccola NG, Buckner RL, Bulik-Sullivan B, Byerley W, Cahn W, Cai G, Cairns MJ, Campion D, Cantor RM, Carr VJ, Carrera N, Catts SV, Chambert KD, Cheng W, Cloninger CR, Cohen D, Cormican P, Craddock N, Crespo-Facorro B, Crowley JJ, Curtis D, Davidson M, Davis KL, Degenhardt F, Del Favero J, DeLisi LE, Dikeos D, Dinan T, Djurovic S, Donohoe G, Drapeau E, Duan J, Dudbridge F, Eichhammer P, Eriksson J, Escott-Price V, Essioux L, Fanous AH, Farh KH, Farrell MS, Frank J, Franke L, Freedman R, Freimer NB, Friedman JI, Forstner AJ, Fromer M, Genovese G, Georgieva L, Gershon ES, Giegling I, Giusti-Rodríguez P, Godard S, Goldstein JI, Gratten J, de Haan L, Hamshere ML, Hansen M, Hansen T, Haroutunian V, Hartmann AM, Henskens FA, Herms S, Hirschhorn JN, Hoffmann P, Hofman A, Huang H, Ikeda M, Joa I, Kähler AK, Kahn RS, Kalaydjieva L, Karjalainen J, Kavanagh D, Keller MC, Kelly BJ, Kennedy JL, Kim Y, Knowles JA, Konte B, Laurent C, Lee P, Lee SH, Legge SE, Lerer B, Levy DL, Liang KY, Lieberman J, Lönnqvist J, Loughland CM, Magnusson PKE, Maher BS, Maier W, Mallet J, Mattheisen M, Mattingsdal M, McCarley RW, McDonald C, McIntosh AM, Meier S, Meijer CJ, Melle I, Mesholam-Gately RI, Metspalu A, Michie PT, Milani L, Milanova V, Mokrab Y, Morris DW, Müller-Myhsok B, Murphy KC, Murray RM, Myin-Germeys I, Nenadic I, Nertney DA, Nestadt G, Nicodemus KK, Nisenbaum L, Nordin A, O'Callaghan E, O'Dushlaine C, Oh SY, Olincy A, Olsen L, O'Neill FA, Van Os J, Pantelis C, Papadimitriou GN, Parkhomenko E, Pato MT, Paunio T, Psychosis Endophenotypes International Consortium, Perkins DO, Pers TH, Pietiläinen O, Pimm J, Pocklington AJ, Powell J, Price A, Pulver AE, Purcell SM, Quested D, Rasmussen HB, Reichenberg A, Reimers MA, Richards AL, Roffman JL, Roussos P, Ruderfer DM, Salomaa V, Sanders AR, Savitz A, Schall U, Schulze TG, Schwab SG, Scolnick EM, Scott RJ, Seidman LJ, Shi J, Silverman JM, Smoller JW, Söderman E, Spencer CCA, Stahl EA, Strengman E, Strohmaier J, Stroup TS, Suvisaari J, Svrakic DM, Szatkiewicz JP, Thirumalai S, Tooney PA, Veijola J, Visscher PM, Waddington J, Walsh D, Webb BT, Weiser M, Wildenauer DB, Williams NM, Williams S, Witt SH, Wolen AR, Wormley BK, Wray NR, Wu JQ, Zai CC, Adolfsson R, Andreassen OA, Blackwood DHR, Bramon E, Buxbaum JD, Cichon S, Collier DA, Corvin A, Daly MJ, Darvasi A, Domenici E, Esko T, Gejman PV, Gill M, Gurling H, Hultman CM, Iwata N, Jablensky AV, Jönsson EG, Kendler KS, Kirov G, Knight J, Levinson DF, Li QS, McCarroll SA, McQuillin A, Moran JL, Mowry BJ, Nöthen MM, Ophoff RA, Owen MJ, Palotie A, Pato CN, Petryshen TL, Posthuma D, Rietschel M, Riley BP, Rujescu D, Sklar P, St Clair D, Walters JTR, Werge T, Sullivan PF, O'Donovan MC, Scherer SW, Neale BM, Sebat J, CNV and Schizophrenia Working Groups of the Psychiatric Genomics Consortium. PMID: 27869829; PMCID: PMC5737772.
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PubMed Mentions:
474 Fields:
Translation:
Humans
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Frequency and Complexity of De Novo Structural Mutation in Autism. Am J Hum Genet. 2016 Apr 07; 98(4):667-79.
Brandler WM, Antaki D, Gujral M, Noor A, Rosanio G, Chapman TR, Barrera DJ, Lin GN, Malhotra D, Watts AC, Wong LC, Estabillo JA, Gadomski TE, Hong O, Fajardo KV, Bhandari A, Owen R, Baughn M, Yuan J, Solomon T, Moyzis AG, Maile MS, Sanders SJ, Reiner GE, Vaux KK, Strom CM, Zhang K, Muotri AR, Akshoomoff N, Leal SM, Pierce K, Courchesne E, Iakoucheva LM, Corsello C, Sebat J. PMID: 27018473; PMCID: PMC4833290.
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PubMed Mentions:
54 Fields:
Translation:
HumansCells
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An integrated map of structural variation in 2,504 human genomes. Nature. 2015 Oct 01; 526(7571):75-81.
Sudmant PH, Rausch T, Gardner EJ, Handsaker RE, Abyzov A, Huddleston J, Zhang Y, Ye K, Jun G, Fritz MH, Konkel MK, Malhotra A, Stütz AM, Shi X, Casale FP, Chen J, Hormozdiari F, Dayama G, Chen K, Malig M, Chaisson MJP, Walter K, Meiers S, Kashin S, Garrison E, Auton A, Lam HYK, Mu XJ, Alkan C, Antaki D, Bae T, Cerveira E, Chines P, Chong Z, Clarke L, Dal E, Ding L, Emery S, Fan X, Gujral M, Kahveci F, Kidd JM, Kong Y, Lameijer EW, McCarthy S, Flicek P, Gibbs RA, Marth G, Mason CE, Menelaou A, Muzny DM, Nelson BJ, Noor A, Parrish NF, Pendleton M, Quitadamo A, Raeder B, Schadt EE, Romanovitch M, Schlattl A, Sebra R, Shabalin AA, Untergasser A, Walker JA, Wang M, Yu F, Zhang C, Zhang J, Zheng-Bradley X, Zhou W, Zichner T, Sebat J, Batzer MA, McCarroll SA, 1000 Genomes Project Consortium, Mills RE, Gerstein MB, Bashir A, Stegle O, Devine SE, Lee C, Eichler EE, Korbel JO. PMID: 26432246; PMCID: PMC4617611.
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PubMed Mentions:
1114 Fields:
Translation:
HumansCells
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The Influence of Microdeletions and Microduplications of 16p11.2 on Global Transcription Profiles. J Child Neurol. 2015 Dec; 30(14):1947-53.
Kusenda M, Vacic V, Malhotra D, Rodgers L, Pavon K, Meth J, Kumar RA, Christian SL, Peeters H, Cho SS, Addington A, Rapoport JL, Sebat J. PMID: 26391891; PMCID: PMC4739844.
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PubMed Mentions:
7 Fields:
Translation:
HumansCells
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Characterization of molecular and cellular phenotypes associated with a heterozygous CNTNAP2 deletion using patient-derived hiPSC neural cells. NPJ Schizophr. 2015 Jun 24; 1.
Lee IS, Carvalho CM, Douvaras P, Ho SM, Hartley BJ, Zuccherato LW, Ladran IG, Siegel AJ, McCarthy S, Malhotra D, Sebat J, Rapoport J, Fossati V, Lupski JR, Levy DL, Brennand KJ. PMID: 26985448; PMCID: PMC4789165.
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PubMed Mentions:
32
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Spatiotemporal 16p11.2 protein network implicates cortical late mid-fetal brain development and KCTD13-Cul3-RhoA pathway in psychiatric diseases. Neuron. 2015 Feb 18; 85(4):742-54.
Lin GN, Corominas R, Lemmens I, Yang X, Tavernier J, Hill DE, Vidal M, Sebat J, Iakoucheva LM. PMID: 25695269; PMCID: PMC4335356.
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PubMed Mentions:
98 Fields:
Translation:
HumansCells
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From de novo mutations to personalized therapeutic interventions in autism. Annu Rev Med. 2015; 66:487-507.
Brandler WM, Sebat J. PMID: 25587659.
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PubMed Mentions:
16 Fields:
Translation:
Humans
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Protein interaction network of alternatively spliced isoforms from brain links genetic risk factors for autism. Nat Commun. 2014 Apr 11; 5:3650.
Corominas R, Yang X, Lin GN, Kang S, Shen Y, Ghamsari L, Broly M, Rodriguez M, Tam S, Wanamaker SA, Fan C, Yi S, Tasan M, Lemmens I, Kuang X, Zhao N, Malhotra D, Michaelson JJ, Vacic V, Calderwood MA, Roth FP, Tavernier J, Horvath S, Salehi-Ashtiani K, Korkin D, Sebat J, Hill DE, Hao T, Vidal M, Iakoucheva LM. PMID: 24722188; PMCID: PMC3996537.
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PubMed Mentions:
76 Fields:
Translation:
HumansCells
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Formation of chimeric genes by copy-number variation as a mutational mechanism in schizophrenia. Am J Hum Genet. 2013 Oct 03; 93(4):697-710.
Rippey C, Walsh T, Gulsuner S, Brodsky M, Nord AS, Gasperini M, Pierce S, Spurrell C, Coe BP, Krumm N, Lee MK, Sebat J, McClellan JM, King MC. PMID: 24094746; PMCID: PMC3791253.
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PubMed Mentions:
24 Fields:
Translation:
HumansCells
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Reciprocal duplication of the Williams-Beuren syndrome deletion on chromosome 7q11.23 is associated with schizophrenia. Biol Psychiatry. 2014 Mar 01; 75(5):371-7.
Mulle JG, Pulver AE, McGrath JA, Wolyniec PS, Dodd AF, Cutler DJ, Sebat J, Malhotra D, Nestadt G, Conrad DF, Hurles M, Barnes CP, Ikeda M, Iwata N, Levinson DF, Gejman PV, Sanders AR, Duan J, Mitchell AA, Peter I, Sklar P, O'Dushlaine CT, Grozeva D, O'Donovan MC, Owen MJ, Hultman CM, Kähler AK, Sullivan PF, Molecular Genetics of Schizophrenia Consortium, Kirov G, Warren ST. PMID: 23871472; PMCID: PMC3838485.
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PubMed Mentions:
34 Fields:
Translation:
HumansCells
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Implication of a rare deletion at distal 16p11.2 in schizophrenia. JAMA Psychiatry. 2013 Mar; 70(3):253-60.
Guha S, Rees E, Darvasi A, Ivanov D, Ikeda M, Bergen SE, Magnusson PK, Cormican P, Morris D, Gill M, Cichon S, Rosenfeld JA, Lee A, Gregersen PK, Kane JM, Malhotra AK, Rietschel M, Nöthen MM, Degenhardt F, Priebe L, Breuer R, Strohmaier J, Ruderfer DM, Moran JL, Chambert KD, Sanders AR, Shi J, Kendler K, Riley B, O'Neill T, Walsh D, Malhotra D, Corvin A, Purcell S, Sklar P, Iwata N, Hultman CM, Sullivan PF, Sebat J, McCarthy S, Gejman PV, Levinson DF, Owen MJ, O'Donovan MC, Lencz T, Kirov G, Molecular Genetics of Schizophrenia Consortium, Wellcome Trust Case Control Consortium 2. PMID: 23325106; PMCID: PMC3750982.
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PubMed Mentions:
38 Fields:
Translation:
HumansCells
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Whole-genome sequencing in autism identifies hot spots for de novo germline mutation. Cell. 2012 Dec 21; 151(7):1431-42.
Michaelson JJ, Shi Y, Gujral M, Zheng H, Malhotra D, Jin X, Jian M, Liu G, Greer D, Bhandari A, Wu W, Corominas R, Peoples A, Koren A, Gore A, Kang S, Lin GN, Estabillo J, Gadomski T, Singh B, Zhang K, Akshoomoff N, Corsello C, McCarroll S, Iakoucheva LM, Li Y, Wang J, Sebat J. PMID: 23260136; PMCID: PMC3712641.
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PubMed Mentions:
302 Fields:
Translation:
HumansAnimalsCells
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Differential relationship of DNA replication timing to different forms of human mutation and variation. Am J Hum Genet. 2012 Dec 07; 91(6):1033-40.
Koren A, Polak P, Nemesh J, Michaelson JJ, Sebat J, Sunyaev SR, McCarroll SA. PMID: 23176822; PMCID: PMC3516607.
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PubMed Mentions:
138 Fields:
Translation:
HumansCells
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forestSV: structural variant discovery through statistical learning. Nat Methods. 2012 Jul 01; 9(8):819-21.
Michaelson JJ, Sebat J. PMID: 22751202; PMCID: PMC3427657.
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PubMed Mentions:
23 Fields:
Translation:
Humans
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Genetics: Fish heads and human disease. Nature. 2012 May 16; 485(7398):318-9.
Malhotra D, Sebat J. PMID: 22596152.
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PubMed Mentions:
2 Fields:
Translation:
HumansAnimalsCells
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CNVs: harbingers of a rare variant revolution in psychiatric genetics. Cell. 2012 Mar 16; 148(6):1223-41.
Malhotra D, Sebat J. PMID: 22424231; PMCID: PMC3351385.
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PubMed Mentions:
429 Fields:
Translation:
HumansAnimals
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High frequencies of de novo CNVs in bipolar disorder and schizophrenia. Neuron. 2011 Dec 22; 72(6):951-63.
Malhotra D, McCarthy S, Michaelson JJ, Vacic V, Burdick KE, Yoon S, Cichon S, Corvin A, Gary S, Gershon ES, Gill M, Karayiorgou M, Kelsoe JR, Krastoshevsky O, Krause V, Leibenluft E, Levy DL, Makarov V, Bhandari A, Malhotra AK, McMahon FJ, Nöthen MM, Potash JB, Rietschel M, Schulze TG, Sebat J. PMID: 22196331; PMCID: PMC3921625.
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PubMed Mentions:
158 Fields:
Translation:
Humans
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Inferring haplotypes of copy number variations from high-throughput data with uncertainty. G3 (Bethesda). 2011 Jun; 1(1):35-42.
Kato M, Yoon S, Hosono N, Leotta A, Sebat J, Tsunoda T, Zhang MQ. PMID: 22384316; PMCID: PMC3276117.
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PubMed Mentions:
4 Fields:
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Modelling schizophrenia using human induced pluripotent stem cells. Nature. 2011 May 12; 473(7346):221-5.
Brennand KJ, Simone A, Jou J, Gelboin-Burkhart C, Tran N, Sangar S, Li Y, Mu Y, Chen G, Yu D, McCarthy S, Sebat J, Gage FH. PMID: 21490598; PMCID: PMC3392969.
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PubMed Mentions:
676 Fields:
Translation:
HumansCells
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Reduced transcript expression of genes affected by inherited and de novo CNVs in autism. Eur J Hum Genet. 2011 Jun; 19(6):727-31.
Nord AS, Roeb W, Dickel DE, Walsh T, Kusenda M, O'Connor KL, Malhotra D, McCarthy SE, Stray SM, Taylor SM, Sebat J, STAART Psychopharmacology Network, King B, King MC, McClellan JM. PMID: 21448237; PMCID: PMC3110052.
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PubMed Mentions:
71 Fields:
Translation:
HumansCells
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Duplications of the neuropeptide receptor gene VIPR2 confer significant risk for schizophrenia. Nature. 2011 Mar 24; 471(7339):499-503.
Vacic V, McCarthy S, Malhotra D, Murray F, Chou HH, Peoples A, Makarov V, Yoon S, Bhandari A, Corominas R, Iakoucheva LM, Krastoshevsky O, Krause V, Larach-Walters V, Welsh DK, Craig D, Kelsoe JR, Gershon ES, Leal SM, Dell Aquila M, Morris DW, Gill M, Corvin A, Insel PA, McClellan J, King MC, Karayiorgou M, Levy DL, DeLisi LE, Sebat J. PMID: 21346763; PMCID: PMC3351382.
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PubMed Mentions:
155 Fields:
Translation:
HumansCells
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Mapping copy number variation by population-scale genome sequencing. Nature. 2011 Feb 03; 470(7332):59-65.
Mills RE, Walter K, Stewart C, Handsaker RE, Chen K, Alkan C, Abyzov A, Yoon SC, Ye K, Cheetham RK, Chinwalla A, Conrad DF, Fu Y, Grubert F, Hajirasouliha I, Hormozdiari F, Iakoucheva LM, Iqbal Z, Kang S, Kidd JM, Konkel MK, Korn J, Khurana E, Kural D, Lam HY, Leng J, Li R, Li Y, Lin CY, Luo R, Mu XJ, Nemesh J, Peckham HE, Rausch T, Scally A, Shi X, Stromberg MP, Stütz AM, Urban AE, Walker JA, Wu J, Zhang Y, Zhang ZD, Batzer MA, Ding L, Marth GT, McVean G, Sebat J, Snyder M, Wang J, Ye K, Eichler EE, Gerstein MB, Hurles ME, Lee C, McCarroll SA, Korbel JO, 1000 Genomes Project. PMID: 21293372; PMCID: PMC3077050.
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PubMed Mentions:
621 Fields:
Translation:
Humans
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Reduced NMDAR1 expression in the Sp4 hypomorphic mouse may contribute to endophenotypes of human psychiatric disorders. Hum Mol Genet. 2010 Oct 01; 19(19):3797-805.
Zhou X, Nie Z, Roberts A, Zhang D, Sebat J, Malhotra D, Kelsoe JR, Geyer MA. PMID: 20634195; PMCID: PMC2935857.
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PubMed Mentions:
22 Fields:
Translation:
HumansAnimals
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Genomic duplication and overexpression of TJP2/ZO-2 leads to altered expression of apoptosis genes in progressive nonsyndromic hearing loss DFNA51. Am J Hum Genet. 2010 Jul 09; 87(1):101-9.
Walsh T, Pierce SB, Lenz DR, Brownstein Z, Dagan-Rosenfeld O, Shahin H, Roeb W, McCarthy S, Nord AS, Gordon CR, Ben-Neriah Z, Sebat J, Kanaan M, Lee MK, Frydman M, King MC, Avraham KB. PMID: 20602916; PMCID: PMC2896780.
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PubMed Mentions:
51 Fields:
Translation:
HumansAnimalsCells
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A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay. Nat Genet. 2010 Mar; 42(3):203-9.
Girirajan S, Rosenfeld JA, Cooper GM, Antonacci F, Siswara P, Itsara A, Vives L, Walsh T, McCarthy SE, Baker C, Mefford HC, Kidd JM, Browning SR, Browning BL, Dickel DE, Levy DL, Ballif BC, Platky K, Farber DM, Gowans GC, Wetherbee JJ, Asamoah A, Weaver DD, Mark PR, Dickerson J, Garg BP, Ellingwood SA, Smith R, Banks VC, Smith W, McDonald MT, Hoo JJ, French BN, Hudson C, Johnson JP, Ozmore JR, Moeschler JB, Surti U, Escobar LF, El-Khechen D, Gorski JL, Kussmann J, Salbert B, Lacassie Y, Biser A, McDonald-McGinn DM, Zackai EH, Deardorff MA, Shaikh TH, Haan E, Friend KL, Fichera M, Romano C, Gécz J, DeLisi LE, Sebat J, King MC, Shaffer LG, Eichler EE. PMID: 20154674; PMCID: PMC2847896.
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PubMed Mentions:
282 Fields:
Translation:
HumansCells
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Rare structural variants in schizophrenia: one disorder, multiple mutations; one mutation, multiple disorders. Trends Genet. 2009 Dec; 25(12):528-35.
Sebat J, Levy DL, McCarthy SE. PMID: 19883952; PMCID: PMC3351381.
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PubMed Mentions:
118 Fields:
Translation:
HumansAnimals
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Genomewide association study of movement-related adverse antipsychotic effects. Biol Psychiatry. 2010 Feb 01; 67(3):279-82.
Aberg K, Adkins DE, Bukszár J, Webb BT, Caroff SN, Miller DD, Sebat J, Stroup S, Fanous AH, Vladimirov VI, McClay JL, Lieberman JA, Sullivan PF, van den Oord EJ. PMID: 19875103; PMCID: PMC3388725.
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PubMed Mentions:
50 Fields:
Translation:
Humans
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Microduplications of 16p11.2 are associated with schizophrenia. Nat Genet. 2009 Nov; 41(11):1223-7.
McCarthy SE, Makarov V, Kirov G, Addington AM, McClellan J, Yoon S, Perkins DO, Dickel DE, Kusenda M, Krastoshevsky O, Krause V, Kumar RA, Grozeva D, Malhotra D, Walsh T, Zackai EH, Kaplan P, Ganesh J, Krantz ID, Spinner NB, Roccanova P, Bhandari A, Pavon K, Lakshmi B, Leotta A, Kendall J, Lee YH, Vacic V, Gary S, Iakoucheva LM, Crow TJ, Christian SL, Lieberman JA, Stroup TS, Lehtimäki T, Puura K, Haldeman-Englert C, Pearl J, Goodell M, Willour VL, Derosse P, Steele J, Kassem L, Wolff J, Chitkara N, McMahon FJ, Malhotra AK, Potash JB, Schulze TG, Nöthen MM, Cichon S, Rietschel M, Leibenluft E, Kustanovich V, Lajonchere CM, Sutcliffe JS, Skuse D, Gill M, Gallagher L, Mendell NR, Wellcome Trust Case Control Consortium, Craddock N, Owen MJ, O'Donovan MC, Shaikh TH, Susser E, Delisi LE, Sullivan PF, Deutsch CK, Rapoport J, Levy DL, King MC, Sebat J. PMID: 19855392; PMCID: PMC2951180.
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PubMed Mentions:
345 Fields:
Translation:
HumansCells
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Sensitive and accurate detection of copy number variants using read depth of coverage. Genome Res. 2009 Sep; 19(9):1586-92.
Yoon S, Xuan Z, Makarov V, Ye K, Sebat J. PMID: 19657104; PMCID: PMC2752127.
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PubMed Mentions:
302 Fields:
Translation:
Humans
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The role of rare structural variants in the genetics of autism spectrum disorders. Cytogenet Genome Res. 2008; 123(1-4):36-43.
Kusenda M, Sebat J. PMID: 19287137; PMCID: PMC2920182.
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PubMed Mentions:
10 Fields:
Translation:
Humans
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Computing power and sample size for case-control association studies with copy number polymorphism: application of mixture-based likelihood ratio test. PLoS One. 2008; 3(10):e3475.
Kim W, Gordon D, Sebat J, Ye KQ, Finch SJ. PMID: 18941524; PMCID: PMC2566806.
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PubMed Mentions:
6 Fields:
Translation:
Humans
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Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes. N Engl J Med. 2008 Oct 16; 359(16):1685-99.
Mefford HC, Sharp AJ, Baker C, Itsara A, Jiang Z, Buysse K, Huang S, Maloney VK, Crolla JA, Baralle D, Collins A, Mercer C, Norga K, de Ravel T, Devriendt K, Bongers EM, de Leeuw N, Reardon W, Gimelli S, Bena F, Hennekam RC, Male A, Gaunt L, Clayton-Smith J, Simonic I, Park SM, Mehta SG, Nik-Zainal S, Woods CG, Firth HV, Parkin G, Fichera M, Reitano S, Lo Giudice M, Li KE, Casuga I, Broomer A, Conrad B, Schwerzmann M, Räber L, Gallati S, Striano P, Coppola A, Tolmie JL, Tobias ES, Lilley C, Armengol L, Spysschaert Y, Verloo P, De Coene A, Goossens L, Mortier G, Speleman F, van Binsbergen E, Nelen MR, Hochstenbach R, Poot M, Gallagher L, Gill M, McClellan J, King MC, Regan R, Skinner C, Stevenson RE, Antonarakis SE, Chen C, Estivill X, Menten B, Gimelli G, Gribble S, Schwartz S, Sutcliffe JS, Walsh T, Knight SJ, Sebat J, Romano C, Schwartz CE, Veltman JA, de Vries BB, Vermeesch JR, Barber JC, Willatt L, Tassabehji M, Eichler EE. PMID: 18784092; PMCID: PMC2703742.
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PubMed Mentions:
318 Fields:
Translation:
HumansCells
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Rare structural variants disrupt multiple genes in neurodevelopmental pathways in schizophrenia. Science. 2008 Apr 25; 320(5875):539-43.
Walsh T, McClellan JM, McCarthy SE, Addington AM, Pierce SB, Cooper GM, Nord AS, Kusenda M, Malhotra D, Bhandari A, Stray SM, Rippey CF, Roccanova P, Makarov V, Lakshmi B, Findling RL, Sikich L, Stromberg T, Merriman B, Gogtay N, Butler P, Eckstrand K, Noory L, Gochman P, Long R, Chen Z, Davis S, Baker C, Eichler EE, Meltzer PS, Nelson SF, Singleton AB, Lee MK, Rapoport JL, King MC, Sebat J. PMID: 18369103.
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PubMed Mentions:
810 Fields:
Translation:
HumansCells
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Linkage, association, and gene-expression analyses identify CNTNAP2 as an autism-susceptibility gene. Am J Hum Genet. 2008 Jan; 82(1):150-9.
Alarcón M, Abrahams BS, Stone JL, Duvall JA, Perederiy JV, Bomar JM, Sebat J, Wigler M, Martin CL, Ledbetter DH, Nelson SF, Cantor RM, Geschwind DH. PMID: 18179893; PMCID: PMC2253955.
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PubMed Mentions:
395 Fields:
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HumansCells
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A unified genetic theory for sporadic and inherited autism. Proc Natl Acad Sci U S A. 2007 Jul 31; 104(31):12831-6.
Zhao X, Leotta A, Kustanovich V, Lajonchere C, Geschwind DH, Law K, Law P, Qiu S, Lord C, Sebat J, Ye K, Wigler M. PMID: 17652511; PMCID: PMC1933261.
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PubMed Mentions:
148 Fields:
Translation:
Humans
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Copy-number variants in patients with a strong family history of pancreatic cancer. Cancer Biol Ther. 2007 Oct; 6(10):1592-9.
Lucito R, Suresh S, Walter K, Pandey A, Lakshmi B, Krasnitz A, Sebat J, Wigler M, Klein AP, Brune K, Palmisano E, Maitra A, Goggins M, Hruban RH. PMID: 17912030.
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PubMed Mentions:
21 Fields:
Translation:
Humans
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Major changes in our DNA lead to major changes in our thinking. Nat Genet. 2007 Jul; 39(7 Suppl):S3-5.
Sebat J. PMID: 17597778.
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PubMed Mentions:
44 Fields:
Translation:
Humans
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Completing the map of human genetic variation. Nature. 2007 May 10; 447(7141):161-5.
Human Genome Structural Variation Working Group, Eichler EE, Nickerson DA, Altshuler D, Bowcock AM, Brooks LD, Carter NP, Church DM, Felsenfeld A, Guyer M, Lee C, Lupski JR, Mullikin JC, Pritchard JK, Sebat J, Sherry ST, Smith D, Valle D, Waterston RH. PMID: 17495918; PMCID: PMC2685471.
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PubMed Mentions:
91 Fields:
Translation:
Humans
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Strong association of de novo copy number mutations with autism. Science. 2007 Apr 20; 316(5823):445-9.
Sebat J, Lakshmi B, Malhotra D, Troge J, Lese-Martin C, Walsh T, Yamrom B, Yoon S, Krasnitz A, Kendall J, Leotta A, Pai D, Zhang R, Lee YH, Hicks J, Spence SJ, Lee AT, Puura K, Lehtimäki T, Ledbetter D, Gregersen PK, Bregman J, Sutcliffe JS, Jobanputra V, Chung W, Warburton D, King MC, Skuse D, Geschwind DH, Gilliam TC, Ye K, Wigler M. PMID: 17363630; PMCID: PMC2993504.
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PubMed Mentions:
1300 Fields:
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HumansCells
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PROBER: oligonucleotide FISH probe design software. Bioinformatics. 2006 Oct 01; 22(19):2437-8.
Navin N, Grubor V, Hicks J, Leibu E, Thomas E, Troge J, Riggs M, Lundin P, Månér S, Sebat J, Zetterberg A, Wigler M. PMID: 16740623.
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PubMed Mentions:
17 Fields:
Translation:
Cells
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Application of ROMA (representational oligonucleotide microarray analysis) to patients with cytogenetic rearrangements. Genet Med. 2005 Feb; 7(2):111-8.
Jobanputra V, Sebat J, Troge J, Chung W, Anyane-Yeboa K, Wigler M, Warburton D. PMID: 15714078.
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PubMed Mentions:
8 Fields:
Translation:
Humans
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Large-scale copy number polymorphism in the human genome. Science. 2004 Jul 23; 305(5683):525-8.
Sebat J, Lakshmi B, Troge J, Alexander J, Young J, Lundin P, Månér S, Massa H, Walker M, Chi M, Navin N, Lucito R, Healy J, Hicks J, Ye K, Reiner A, Gilliam TC, Trask B, Patterson N, Zetterberg A, Wigler M. PMID: 15273396.
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PubMed Mentions:
976 Fields:
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HumansCells
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Distribution of short paired duplications in mammalian genomes. Proc Natl Acad Sci U S A. 2004 Jul 13; 101(28):10349-54.
Thomas EE, Srebro N, Sebat J, Navin N, Healy J, Mishra B, Wigler M. PMID: 15240876; PMCID: PMC478600.
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PubMed Mentions:
12 Fields:
Translation:
HumansAnimalsCells
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Representational oligonucleotide microarray analysis: a high-resolution method to detect genome copy number variation. Genome Res. 2003 Oct; 13(10):2291-305.
Lucito R, Healy J, Alexander J, Reiner A, Esposito D, Chi M, Rodgers L, Brady A, Sebat J, Troge J, West JA, Rostan S, Nguyen KC, Powers S, Ye KQ, Olshen A, Venkatraman E, Norton L, Wigler M. PMID: 12975311; PMCID: PMC403708.
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PubMed Mentions:
126 Fields:
Translation:
HumansCells
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Metagenomic profiling: microarray analysis of an environmental genomic library. Appl Environ Microbiol. 2003 Aug; 69(8):4927-34.
Sebat JL, Colwell FS, Crawford RL. PMID: 12902288; PMCID: PMC169101.
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PubMed Mentions:
20 Fields:
Translation:
Cells
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Metal chelating properties of pyridine-2,6-bis(thiocarboxylic acid) produced by Pseudomonas spp. and the biological activities of the formed complexes. Biometals. 2002 Jun; 15(2):103-20.
Cortese MS, Paszczynski A, Lewis TA, Sebat JL, Borek V, Crawford RL. PMID: 12046919.
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PubMed Mentions:
18 Fields:
Translation:
AnimalsCells
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Antimicrobial properties of pyridine-2,6-dithiocarboxylic acid, a metal chelator produced by Pseudomonas spp. Appl Environ Microbiol. 2001 Sep; 67(9):3934-42.
Sebat JL, Paszczynski AJ, Cortese MS, Crawford RL. PMID: 11525988; PMCID: PMC93112.
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PubMed Mentions:
18 Fields:
Translation:
Cells
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A Pseudomonas stutzeri gene cluster encoding the biosynthesis of the CCl4-dechlorination agent pyridine-2,6-bis(thiocarboxylic acid). Environ Microbiol. 2000 Aug; 2(4):407-16.
Lewis TA, Cortese MS, Sebat JL, Green TL, Lee CH, Crawford RL. PMID: 11234929.
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PubMed Mentions:
10 Fields:
Translation:
Cells